ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825357997
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486566
ClinVar Variation:
421263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Leu259Ile
CA16617262
NM_001040143.2:c.775C>A